ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1693C>T (p.Pro565Ser)

gnomAD frequency: 0.00004  dbSNP: rs760195130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038687 SCV001202168 uncertain significance Congenital myasthenic syndrome 8 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 565 of the AGRN protein (p.Pro565Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs760195130, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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